Bethlem-Like Myopathy/BM2 or Collagen XII disorder, CMD?
At first I thought "well, this sure does explain the muscle weakness, but I wonder why it's considered a congenital muscular dystrophy. Wouldn't I have had symptoms growing up or be worse off than I am now? I think I'm fine. I can beat this and just keep strengthening while I can and maintain as long as possible!!"
I saw the Neuromuscular specialist last week and he was so kind and took as much time as was needed to explain the diagnosis of how the "bent collagen protein strand" causes muscle to die because the protein cannot break down and rebuild properly.
In all seriousness, this new disease is like so many of my other rare diseases: minimal -no information regarding the disease and they are all on a spectrum.
I'm thankful mine is mild at the moment and hope it stays that way!
There is so much to learn about this diagnosis and my others that I know little about.
Thankful it's not an "unknown". I lived with the "unknown" for many years (7-10+) treating multiple diagnoses improperly.
The non-surgical dumping syndrome, was treated as a diabetic or regular reactive hypoglycemia and made me worse until proper diagnosis. The ME/CFIDS was unknown and we exercised until I couldn't move, talk, or stand up. As was this diagnosis that could have been made worse during that time not knowing we were doing more damage.
I know with a congenital muscular dystrophy/COL12A1/Bethlem myopathy 2, ME (Myalgic Encephalomyelitis), dysautonomia, TBI, ADHD, Dysautonomia non-surgical dumping syndrome/rapid gastric emptying (look it up-all you'll find is surgical dumping syndrome or GP), Bilateral Vestibular Loss, Migraine (+vestibular migraine), Pineal Cyst, and many more, I should feel really crummy, but I don't.
I learned how to smile and remain positive from my friend with BRCA 4 (she passed Dec 2020) & that YOU have control over your chronic illness/disease and how you react to it/everyone else in a positive manner.
I have learned from many years of these rare diseases that no one (other than those who have it) will ever understand you and to not expect others to understand what you are thinking, feeling or going through.
I feel very blessed that my symptoms are mild, manageable now (For all diagnoses!) and I can move forward despite any obstacles God throws my way!
I can only do the best I can with what I have to work with.
I have worked very hard to find a self-care routine that works for me-specific exercise, diet, meditation, ST/OT/PT/VT despite many diagnoses having opposite treatments (BVL-stimulate and stay active as possible; ME/migraine/CMD-monitor energy levels, avoid overstimulation, and PACE self!
My SLP (Speech therapist) and I have a saying:
So I encourage you to be mindful, grateful, compassionate to yourself, and find out how can you turn your diagnosis(es) positive each day!
#MyalgicEncephalomyelitis #cmd #bvh #Dysautonomia